Myopathy, Centronuclear, 1 (CNM1)

Alias:

Autosomal Dominant Centronuclear Myopathy

Centronuclear Myopathy 1

Ad-Cnm

Cnm1

Centronuclear Myopathy, Autosomal, Modifier of

Myopathy, Centronuclear, Autosomal Dominant

Autosomal Dominant Myotubular Myopathy

Centronuclear Myopathy Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myopathy, Centronuclear, 1, also known as autosomal dominant centronuclear myopathy, is related to myopathy, centronuclear, 4 and centronuclear myopathy, and has symptoms including facial paresis and ophthalmoparesis. An important gene associated with Myopathy, Centronuclear, 1 is DNM2 (Dynamin 2), and among its related pathways/superpathways are Striated muscle contraction pathway and Myogenesis. The drugs Tamoxifen and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and eye, and related phenotypes are centrally nucleated skeletal muscle fibers and ptosis

Related ID：

MALACARDS：MYP123

OMIM：160150

MESH：D020914